<i>DAAM2</i> gene variants p.(Asp165Glu) and p.(Asn614ThrfsTer2) in pediatric cryptorchidism: a hypothesis-generating pilot case-control study from the Eastern Black Sea region of Türkiye. [PDF]
Yalçin O, Doğan Ç.
europepmc +1 more source
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang +13 more
wiley +1 more source
Diffuse MRI Edema Predicts Relapse in Cerebral Amyloid Angiopathy–Related Inflammation
ABSTRACT Objective To identify MRI predictors of relapse and quantify relapse and mortality risk in cerebral amyloid angiopathy–related inflammation (CAA‐RI). A secondary objective was to assess the association between mycophenolate mofetil use and relapse risk. Methods We performed a retrospective cohort study of 36 patients with CAA‐RI treated at the
G. Abbas Kharal +10 more
wiley +1 more source
Caries-Exclusive and Health-Associated Taxa in the Peruvian Pediatric Salivary Microbiome Identified by Full-Length Nanopore 16S Sequencing: Implications for Ecological Modulation of Dental Caries. [PDF]
Rojas Rodríguez LA +7 more
europepmc +1 more source
Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini +9 more
wiley +1 more source
ABSTRACT Objective Autoimmune glial fibrillary acidic protein astrocytopathy (GFAP‐A) is an inflammatory central nervous system disorder with variable outcomes. Relapse occurs in a subset of patients, but early predictors remain unclear. We aimed to identify admission‐available features associated with 1‐year recurrence and develop an interpretable ...
Qingting Hong +10 more
wiley +1 more source
Increased frequency of rare damaging variants in <i>PLIN4</i> in patients with anorexia nervosa. [PDF]
Lutter M +6 more
europepmc +1 more source
ABSTRACT Objective There is a lack of studies on seizure outcomes associated with ofatumumab therapy in patients for relapsing anti‐N‐methyl‐D‐aspartate (NMDA) receptor encephalitis. We aimed to evaluate long‐term seizure outcomes of ofatumumab therapy for relapsing anti‐NMDA receptor encephalitis.
Jian Wang, Mengjiao Li, Ping Kong
wiley +1 more source
Cloud-Plots for Spherical Data With Applications to Glaucoma and Gait Cyclograms. [PDF]
Jammalamadaka SR, Abuzaid AH.
europepmc +1 more source
Diffusion Basis Spectrum Imaging of Tissue Microstructure and Early Treatment in Multiple Sclerosis
ABSTRACT Objective Conventional MRI cannot resolve the coexisting pathological processes within multiple sclerosis tissue. Diffusion Basis Spectrum Imaging decomposes the diffusion signal into fiber, cell, and hindered ratios indexing axonal integrity, cellularity, and extracellular space, respectively.
Apisit Kaewsanit +10 more
wiley +1 more source

